Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. [electronic resource]
Producer: 20130327Description: 438-47 p. digitalISSN:- 1096-7206
- Adolescent
- Adult
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis
- Exons
- Female
- France -- epidemiology
- Galactosemias -- genetics
- Humans
- Infant
- Introns
- Male
- Middle Aged
- Molecular Docking Simulation
- Mutation
- Phenotype
- Protein Stability
- Protein Subunits -- deficiency
- UTP-Hexose-1-Phosphate Uridylyltransferase -- deficiency
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.